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Ghayda M Mirzaa

Showing results (51-60 of 76) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
Pageof 8

Showing results (51-60 of 76) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
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